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| Speech apraxia v1.35 | GNAI1 | Zornitza Stark Marked gene: GNAI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.35 | GNAI1 | Zornitza Stark Gene: gnai1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.35 | GNAI1 | Zornitza Stark Classified gene: GNAI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.35 | GNAI1 | Zornitza Stark Gene: gnai1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | GNAI1 |
Hali Van Niel changed review comment from: Reported individual with CAS and de novo missense variant (c.518 A > T; p.(Asp173Val)) (Van Niel et al., 2026; PMID: 41530369), Validated C4 finding from VCGS clinical NATA pipeline Mitchel et al. (2025; PMID: 39931922) report one individual with dysarthria and GNAI1 variant (Supp Table 6). Disorder characterised by impaired speech. Phenotype has variable expressivity ranging from mild to severe (PMID: 33473207); to: Reported individual with CAS and de novo missense variant (c.518 A > T; p.(Asp173Val)) (Van Niel et al., 2026; PMID: 41530369), Validated C4 finding from VCGS clinical NATA pipeline Mitchel et al. (2025; PMID: 39931922) report one individual with dysarthria and GNAI1 variant (Supp Table 6). Disorder characterised by impaired speech. Phenotype is variable ranging from mild to severe (PMID: 33473207) |
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| Speech apraxia v1.31 | GNAI1 | Hali Van Niel reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 41530369, 9931922, 33473207); Phenotypes: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities (MIM#619854); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | GNAI1 | Hali Van Niel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | GNAI1 |
Hali Van Niel gene: GNAI1 was added gene: GNAI1 was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAI1 were set to PMID: 41530369; 39931922; 33473207 Phenotypes for gene: GNAI1 were set to neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities (MIM#619854) Review for gene: GNAI1 was set to AMBER Added comment: One reported individual with CAS and de novo missense variant (c.518 A > T; p.(Asp173Val)) (Van Niel et al., 2026; PMID: 41530369) Mitchel et al. (2025; PMID: 39931922) report one individual with dysarthria and GNAI1 variant (Supp Table 6). Disorder characterised by impaired speech. Phenotype has variable expressivity ranging from mild to severe (PMID: 33473207) Sources: Expert List, Literature |
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| Speech apraxia v1.13 | Zornitza Stark removed gene:GNAI1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | GNAI1 | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | GNAI1 |
Thomas Scerri gene: GNAI1 was added gene: GNAI1 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNAI1 were set to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854 Review for gene: GNAI1 was set to RED Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. Sources: Expert list, Expert Review |
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